Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes

British Journal of Ophthalmology

Volumn 99, Issue 4, 2015, Pages 437-439

  Luscan, A ^a,b   Just, P A ^c,d   Briand, A ^a,b   Burin Des Roziers, C ^a   Goussard, P ^a   Nitschke P ^b   Vidaud, M ^a,b   Avril, M F ^a,e   Terris, B ^c,d   Pasmant, E ^a,b  

^a Institut Cochin   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSERM   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e INSTITUT COCHIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; TUMOR PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BAP1 GENE; CARCINOGENESIS; CLINICAL FEATURE; CONTROLLED STUDY; EXOME; FBXW7 GENE; GNA11 GENE; GNAQ GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIVER METASTASIS; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SF3B1 GENE; SOMATIC MUTATION; TUMOR GENE; TUMOR SUPPRESSOR GENE; UVEA MELANOMA; GENETICS; HIGH THROUGHPUT SEQUENCING; LIVER TUMOR; MELANOMA; NUCLEOTIDE SEQUENCE; PATHOLOGY; RETROSPECTIVE STUDY; SECONDARY; UVEA TUMOR;

DNA MUTATIONAL ANALYSIS; GENES, NEOPLASM; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LIVER NEOPLASMS; MELANOMA; MUTATION, MISSENSE; NEOPLASM PROTEINS; RETROSPECTIVE STUDIES; UVEAL NEOPLASMS;

EID: 84925436919     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2014-305371     Document Type: Article

References (23)

1. Shildkro Y, Wilson MW. Update on posterior uveal melanoma: treatment of the eye and emerging strategies in the prognosis and treatment of metastatic disease. Curr Opin Ophthalmol 2009;20:504-10.
2. Tschentscher F, Hasing J, Hölter T, et al. Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities. Cancer Res 2003;63:2578-84.
3. Prescher G, Bornfeld N, Hirche H, et al. Prognostic implications of monosomy 3 in uveal melanoma. Lancet 1996;347:1222-5.
4. Sisley K, Rennie IG, Parsons MA, et al. Abnormalities of chromosomes 3 and 8 in posterior uveal melanoma correlate with prognosis. Genes Chromosomes Cancer 1997;19:22-8.
5. White VA, Chambers JD, Courtright PD, et al. Correlation of cytogenetic abnormalities with the outcome of patients with uveal melanoma. Cancer 1998;83:354-9.
6. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-74.
7. Pollard KS, Hubisz MJ, Rosenbloom KR, et al. Detection of non neutral substitution rates on mammalian phylogenies. Genome Res 2010;20:110-21.
8. Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009;457:599-602.
9. Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010;363:2191-9.
10. Koopmans AE, Vaarwater J, Paridaens D, et al. Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. Br J Cancer 2013;109:493-6.
11. Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010;330:1410-13.
12. Scheuermann JC, de Ayala Alonso AG, Oktaba K, et al. Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. Nature 2010;465:243-7.
13. Harbour JW, Roberson ED, Anbunathan H, et al. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet 2013;45:133-5.
14. Furney SJ, Pedersen M, Gentien D, et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov 2013;3:1122-9.
15. Ewens KG, Kanetsky PA, Richards-Yutz JA, et al. Chromosome 3 status combined with bap1 and eif1ax mutation profiles are associated with metastasis in uveal melanoma. Invest Ophthalmol Vis Sci 2014;55:5160-7.
16. Welcker M, Clurman BE. FBW7 ubiquitin ligase: a tumour suppressor at the crossroads of cell division, growth and differentiation. Nat Rev Cancer 2008;8:83-93.
17. Cheng Y, Li G. Role of the ubiquitin ligase Fbw7 in cancer progression. Cancer Metastasis Rev 2012;31:75-87.
18. Wang Z, Inuzuka H, Zhong J, et al. Tumor suppressor functions of FBW7 in cancer development and progression. FEBS Lett 2012;586:1409-18.
19. Davis H, Lewis A, Behrens A, et al. Investigation of the atypical FBXW7 mutation spectrum in human tumours by conditional expression of a heterozygous propellor tip missense allele in the mouse intestines. Gut 2014;63:792-9.
20. Aydin IT, Melamed RD, Adams SJ, et al. FBXW7 mutations in melanoma and a new therapeutic paradigm. J Natl Cancer Inst 2014;106:dju107.
21. Kandoth C, McLellan MD, Vandin F, et al. Mutational landscape and significance across 12 major cancer types. Nature 2013;502:333-9.
22. Martin M, Maßhöfer L, Temming P, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet 2013;45:933-6.
23. Cheng Y, Chen G, Martinka M, et al. Prognostic significance of Fbw7 in human melanoma and its role in cell migration. J Invest Dermatol 2013;133:1794-802.